Variant report

Variant	rs4500499
Chromosome Location	chr11:120445835-120445836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:120445687-120445886	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GRIK4	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11217918	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11599940	0.97[EUR][1000 genomes]
rs11600436	0.82[EUR][1000 genomes]
rs11602493	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603180	0.95[EUR][1000 genomes]
rs12273026	1.00[ASN][1000 genomes]
rs12273031	0.96[ASN][1000 genomes]
rs12279396	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12284644	0.86[AMR][1000 genomes]
rs12295741	1.00[ASN][1000 genomes]
rs12574365	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1573789	0.94[EUR][1000 genomes]
rs17311310	0.94[EUR][1000 genomes]
rs17311317	0.94[EUR][1000 genomes]
rs17311324	0.94[EUR][1000 genomes]
rs2001655	1.00[ASN][1000 genomes]
rs3892497	0.82[EUR][1000 genomes]
rs4278519	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4298914	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4447186	0.91[ASN][1000 genomes]
rs4936521	0.94[EUR][1000 genomes]
rs4938818	0.95[EUR][1000 genomes]
rs61201354	0.86[ASN][1000 genomes]
rs61900897	0.82[EUR][1000 genomes]
rs61900900	0.95[EUR][1000 genomes]
rs7103821	0.87[AMR][1000 genomes]
rs73000621	0.94[EUR][1000 genomes]
rs7929781	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1051115	chr11:120376808-120446434	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035499	chr11:120398643-120446434	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049494	chr11:120400115-120453381	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120437200-120449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120437200-120468000	Weak transcription	Right Atrium	heart
3	chr11:120442200-120446600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:120444600-120450200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120444800-120446600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:120445200-120446000	Enhancers	NH-A	brain
7	chr11:120445400-120446200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:120445600-120446400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120445600-120446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:120445600-120446400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:120445600-120446400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:120445600-120446400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:120445800-120446000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:120445800-120446000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:120445800-120446200	Enhancers	HUES64 Cell Line	embryonic stem cell

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